ClinVar Miner

Submissions for variant NM_032776.3(JMJD1C):c.6834C>T (p.Tyr2278=)

gnomAD frequency: 0.00030  dbSNP: rs140575344
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945987 SCV001092066 benign Early myoclonic encephalopathy 2024-03-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV005243429 SCV005891167 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing JMJD1C: BP4, BP7

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